Canonical Allele Identifier: CA2017888356
Gene: PLBD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507009T= , CM000674.2:g.14507009T= GRCh38
NC_000012.11:g.14659943T= , CM000674.1:g.14659943T= GRCh37
NC_000012.10:g.14551210T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1296A= MANE Select ENSP00000240617.5:p.Pro432=
ENST00000240617.9:c.1296A= ENSP00000240617.5:p.Pro432=
NM_024829.5:c.1296A= NP_079105.4:p.Pro432=
NM_024829.6:c.1296A= MANE Select NP_079105.4:p.Pro432=